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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Lethal polymalformative syndrome Boissel type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Immunodeficiency due to CD25 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystinuria, type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary CD59 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to viral and mycobacterial infection Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebral atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated adenosine triphosphate synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leydig cell agenesis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
T-cell receptor alpha-beta-positive T-cell deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 71 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 66 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive nail dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gemignani syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia due to STUB1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
2-aminoadipic 2-oxoadipic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal infantile hypertonic myofibrillar myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Occipital pachygyria and polymicrogyria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lipoic acid synthetase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia A4 type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile cerebellar and retinal degeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 10 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Distal myopathy with anterior tibial onset Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Karyomegalic interstitial nephritis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lipoyl transferase 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinising hormone Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Recessive mitochondrial ataxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Richieri Costa-da Silva syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Parkinsonian pyramidal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RIDDLE syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 6 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Recurrent Neisseria infection due to factor D deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Parana hard skin syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leigh syndrome with nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atypical dentin dysplasia due to SMOC2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Subaortic stenosis and short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive optic atrophy OPA7 type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Distal anoctaminopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Holzgreve syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thoracomelic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation deficiency type 20 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Junctional epidermolysis bullosa Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary persistence of fetal haemoglobin with sickle cell disease syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polycystic kidney disease, infantile type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Reunion Island Larsen-like syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to CEP19 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Erythropoietic uroporphyria associated with myeloid malignancy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 11 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
PGM1-CDG Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to SIM1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Immunodeficiency with factor I anomaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive brachyolmia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 56 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyperinsulinism due to SUR1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Navajo neurohepatopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of interleukin 36 receptor antagonist Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic ataxia with leukoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial infantile myoclonic epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to interleukin 21 receptor deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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